Marfan Syndrome: Signs and Management

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  • 0:09 When Being Tall and…
  • 0:36 What Is Marfan Syndrome?
  • 1:08 Why Does Marfan…
  • 3:29 Clinical Signs,…
  • 4:12 Treatment and…
  • 5:13 Lesson Summary
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Lesson Transcript
Instructor: Artem Cheprasov

Artem has a doctor of veterinary medicine degree.

This lesson will explore a condition known as Marfan syndrome. It's a potentially deadly disease that involves everything from the skeleton to the heart. Find out more as we take a look at why it occurs and how it may be treated.

When Being Tall and Thin Isn't a Good Sign

In our society, there are several things that are appreciated for a wide variety of reasons when it comes to our physique. We like to think that being tall is good. Taller people may get more respect or be better at sports. Another thing we seem to obsess about is weight. Being thin is considered attractive and healthy as much as being tall. But, in one unfortunate combination that this lesson will engage you with, being tall and thin is actually a sign of a potential disease.

What Is Marfan Syndrome?

Marfan syndrome is a genetic connective tissue disorder that affects the skeletal, cardiovascular and respiratory systems, as well as the eyes. Men or women of any race may be affected with this condition. Individuals who have a close relative, such as a parent, who is also affected with Marfan syndrome, are at increased risk of its development. This is because it's an autosomal dominant condition, meaning you only need one copy of the defective gene in order to get this disorder.

Why Does Marfan Syndrome Occur?

The genetic mutation that occurs in this condition leads your body's connective tissue to develop improperly. The connective tissue in your body is the tissue that provides your body with strength, flexibility, cohesion, and support. This isn't difficult to imagine. For instance, strength and support comes from your skeleton. Bones are a type of connective tissue. Bones are held together by ligaments, which is connective tissue. Muscles attach to bone via tendons, those are connective tissues. Connective tissue is found in just about any place you can possibly think of in your body: skin, blood vessels, eyes, and beyond.

The main protein that makes up connective tissue, collagen, is most certainly something you have heard of! Oh, and the adipose tissue, or body fat, people try so hard to desperately lose in order to become thin is also considered to be a type of connective tissue. As you can tell, even though the definition seemed vague, the examples of connective tissue are plenty and easy to understand.

Now that we're clear on what connective tissue is in the body, you can more easily appreciate how this genetic defect causes people trouble. Besides collagen, another important protein found in connective tissue is called elastin. Elastin is a protein found in connective tissue that is responsible for a tissue's flexibility upon stretching and returning to normal position upon relaxation of a force causing that stretch. In essence, elastin is responsible for the rubber band effect of places like your skin.

Go ahead! Try it out! Pinch your cheek and pull away as you do so. Or, you can ask your grandmother to do it for you. As soon as you let go, your skin pops back into place. Elastin allows for the stretch of your skin once it's pulled and is responsible for putting your skin back into position once your grandma lets go.

The problem in Marfan syndrome is that another protein, called fibrillin-1, is deficient. This is a protein responsible for the health and maintenance of elastic fibers, among many other things. Fibrillin's absence causes other problems as well, such as the initiation of an inflammatory cascade that degrades other proteins and structures of connective tissue.

Clinical Signs, Symptoms, and Diagnostics

The end result is that people's connective tissue is either destroyed, damaged, or doesn't develop properly, leading to:

  • A tall, thin build
  • Disproportionately long arms, legs, and fingers, as well as flexible joints
  • Scoliosis, a condition where the spine curves to either side of the body
  • A heart murmur
  • Weak blood vessel walls that may rupture and cause death
  • Poor eyesight

A doctor will use these signs, a person's family medical history, an eye exam, a heart exam via an echocardiogram, and many other things to try to diagnose this condition. It is difficult to diagnose Marfan syndrome because it can mimic a lot of different types of connective tissue disorders.

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